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dc.contributor.authorFernández Marmiesse, Ana 
dc.date.accessioned2017-06-07T07:15:52Z
dc.date.available2017-06-07T07:15:52Z
dc.date.issued2015
dc.identifier.issn0141-8955
dc.identifier.urihttp://hdl.handle.net/20.500.11940/4491
dc.language.isoeng
dc.titleA De novo mutation in DNM1L associated with dopaminergic impairment showing infantile parkinsonism and fatal outcome
dc.typePublicación de congreso
dc.authorsophosDiez, H.
dc.authorsophosGiros, M.
dc.authorsophosArmstrong, J.
dc.authorsophosFernandez-Marmiesse, A.
dc.authorsophosOrmazabal, A.
dc.authorsophosMontoya, J.
dc.authorsophosArtuch, R.
dc.authorsophosGarcia-Cazorla, A.
dc.identifier.doi10.1007/s10545-015-9877-x
dc.identifier.sophos18951
dc.issue.numbersupl. 1
dc.journal.titleJOURNAL OF INHERITED METABOLIC DISEASE
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Hematoloxía clínica
dc.page.initialS315
dc.rights.accessRightsopenAccess
dc.typesophosComunicaciones a congresos
dc.volume.number38


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